ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6349C>A (p.Gln2117Lys) (rs587780546)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119183 SCV000153919 uncertain significance Familial adenomatous polyposis 1 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 2117 of the APC protein (p.Gln2117Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs587780546, ExAC 0.001%) but has not been reported in the literature in individuals with a APC-related disease. ClinVar contains an entry for this variant (Variation ID: 132733). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000583428 SCV000687074 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679079 SCV000805451 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing

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